Rare variant associations with plasma protein levels in the UK Biobank

Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank

(2023) Abhishek Nag et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SVEP1 is an endogenous ligand for the orphan receptor PEAR1

(2023) Jared S. Elenbaas et al.   Nature Communications

Plasma proteomic associations with genetics and health in the UK Biobank

(2023) Benjamin B. Sun et al.   NATURE

Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability

(2022) Marcin Kierczak et al.   Nature Communications

Synonymous mutations in representative yeast genes are mostly strongly non-neutral

(2022) Xukang Shen et al.   NATURE

Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies

(2022) Charli E. Harlow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeting of Scavenger Receptors Stabilin-1 and Stabilin-2 Ameliorates Atherosclerosis by a Plasma Proteome Switch Mediating Monocyte/Macrophage Suppression

(2022) Calin-Petru Manta et al.   CIRCULATION

A minimal role for synonymous variation in human disease

(2022) Ryan S. Dhindsa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

(2022) Abhishek Nag et al.   Science Advances

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease

(2021) Daniel H. Katz et al.   CIRCULATION

Disease variant prediction with deep generative models of evolutionary data

(2021) Jonathan Frazer et al.   NATURE

Large-scale integration of the plasma proteome with genetics and disease

(2021) Egil Ferkingstad et al.   NATURE GENETICS

Mapping the proteo-genomic convergence of human diseases

(2021) Maik Pietzner et al.   SCIENCE

Mapping the serum proteome to neurological diseases using whole genome sequencing

(2021) Grace Png et al.   Nature Communications

Comprehensive draft of the mouse embryonic fibroblast lysosomal proteome by mass spectrometry based proteomics

(2020) Srigayatri Ponnaiyan et al.   Scientific Data

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

(2020) Jie Zheng et al.   NATURE GENETICS

Genetics meets proteomics: perspectives for large population-based studies

(2020) Karsten Suhre et al.   NATURE REVIEWS GENETICS

ukbtools: An R package to manage and query UK Biobank data

(2019) Ken B. Hanscombe et al.   PLoS One

Rare-variant collapsing analyses for complex traits: guidelines and applications

(2019) Gundula Povysil et al.   NATURE REVIEWS GENETICS

Gilteritinib or Chemotherapy for Relapsed or Refractory FLT3-Mutated AML

(2019) Alexander E. Perl et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

(2018) Zeynep Coban-Akdemir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human dendritic cell subsets: an update

(2018) Matthew Collin et al.   IMMUNOLOGY

A Gain-of-Function Mutation in EPO in Familial Erythrocytosis

(2018) Jakub Zmajkovic et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

(2018) Noura S. Abul-Husn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetics of trans-regulatory variation in gene expression

(2018) Frank Wolfgang Albert et al.   eLife

JAK2-V617F promotes venous thrombosis through β1/β2 integrin activation

(2018) Bärbel Edelmann et al.   JOURNAL OF CLINICAL INVESTIGATION

Genomic atlas of the human plasma proteome

(2018) Benjamin B. Sun et al.   NATURE

Prediction of acute myeloid leukaemia risk in healthy individuals

(2018) Sagi Abelson et al.   NATURE

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

The interaction between progranulin and prosaposin is mediated by granulins and the linker region between saposin B and C

(2017) Xiaolai Zhou et al.   JOURNAL OF NEUROCHEMISTRY

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease

(2017) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation

(2017) Richard M. Stone et al.   NEW ENGLAND JOURNAL OF MEDICINE

Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation

(2017) Shashikant Pujar et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy

(2017) Lin Liu et al.   Molecular Therapy-Methods & Clinical Development

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prosaposin is a regulator of progranulin levels and oligomerization

(2016) Alexandra M. Nicholson et al.   Nature Communications

A draft network of ligand–receptor-mediated multicellular signalling in human

(2015) Jordan A. Ramilowski et al.   Nature Communications

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Deficiency of liver sinusoidal scavenger receptors stabilin-1 and -2 in mice causes glomerulofibrotic nephropathy via impaired hepatic clearance of noxious blood factors

(2011) Kai Schledzewski et al.   JOURNAL OF CLINICAL INVESTIGATION

Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction

(2011) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Outcome of patients with FLT3-mutated acute myeloid leukemia in first relapse

(2009) Farhad Ravandi et al.   LEUKEMIA RESEARCH

PID: the Pathway Interaction Database

(2008) Carl F. Schaefer et al.   NUCLEIC ACIDS RESEARCH